Chunmei Wang
Shanghai, China
Last Updated: 09/26/2026
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Found 11 publications
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.
Journal: Internal medicine (Tokyo, Japan)
Published: June 21, 2021
Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.
Journal: Stem cell research
Published: April 13, 2021
Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene.
Journal: Frontiers in pediatrics
Published: March 22, 2021
Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency.
Journal: Stem cell research
Published: February 06, 2021
Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.
Journal: Stem cell research
Published: May 25, 2020
Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the peripheral blood mononuclear cells of a 1-year-old Chinese girl with mediator complex subunit 12-related syndrome.
Journal: Stem cell research
Published: April 12, 2020
Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13.
Journal: Stem cell research
Published: January 21, 2020
Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13.
Journal: Journal of the neurological sciences
Published: October 31, 2019
MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.
Journal: Frontiers in genetics
Published: August 14, 2019
CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
Journal: Medicine
Published: April 29, 2018
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
Journal: Medical science monitor : international medical journal of experimental and clinical research
Published: February 07, 2018
Showing 1-11 of 11
Last Updated: 09/26/2026